المؤلفون: Brinkmeier, Michelle Lynn, George, Akima Semone, Cheung, Leonard Yan Ming, Mills, Ryan Edward, Melamed, Philippa, Camper, Sally Ann

المصدر: Endocrinology; Dec2024, Vol. 165 Issue 12, p1-12, 12p

مصطلحات موضوعية: GENE expression, LINCRNA, PITUITARY gland, CELL differentiation, TRANSGENIC mice

المؤلفون: Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Olivieri, Federico, Miranda, Lucas, Marino, Roxana, Ramírez, Pablo, Garrido, Natalia Pérez, Mejia, Helen Patiño, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Martí, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez-Millán, Maria Ines

المصدر: Journal of Clinical Endocrinology & Metabolism; Jul2021, Vol. 106 Issue 7, p1956-1976, 21p

مصطلحات موضوعية: SOMATOTROPIN, GENETIC variation, PITUITARY dwarfism, MISSENSE mutation, FIBROBLAST growth factor receptors, SMALL for gestational age, RESEARCH, ENDOCRINE diseases, GENETIC mutation, HYPOPITUITARISM, GENETICS, RESEARCH methodology, GENETIC testing, GENETIC polymorphisms, MEDICAL cooperation, EVALUATION research, COMPARATIVE studies, RESEARCH funding, TRANSCRIPTION factors, PHENOTYPES

مصطلحات جغرافية: ARGENTINA

المؤلفون: Vishnopolska, Sebastián Alexis, Mercogliano, María Florencia, Camilletti, María Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergadá, Ignacio, Olivieri, Federico Alberto, Miranda, Lucas, Marino, Roxana Marcela, Ramírez, Pablo, Pérez Garrido, Nora, Patiño Mejia, Helena, Ciaccio, Marta Graciela Cristina, Di Palma, María Isabel, Belgorosky, Alicia, Marti, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez Millán, María Inés

مصطلحات موضوعية: CONGENITAL HYPOPITUITARISM, GENETIC SCREENING, SINGLE MOLECULE MOLECULAR INVERSION PROBES, VARIANTS, https://purl.org/becyt/ford/3.1, https://purl.org/becyt/ford/3

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: http://hdl.handle.net/11336/162818; Vishnopolska, Sebastián Alexis; Mercogliano, María Florencia; Camilletti, María Andrea; Mortensen, Amanda Helen; Braslavsky, Debora Giselle; et al.; Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 106; 7; 3-2021; 1956-1976; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/162818

المؤلفون: Nakaguma, Marilena, Ferreira, Nathalia Garcia Bianchi Pereira, Benedetti, Anna Flavia Figueredo, Madi, Mariana Cotarelli, Silva, Juliana Moreira, Li, Jun Z., Ma, Qianyi, Bilge Ozel, Ayse, Fang, Qing, Narcizo, Amanda de Moraes, Cardoso, Laís Cavalca, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Arnhold, Ivo Jorge Prado, Jorge, Alexander Augusto de Lima, Mendonca, Berenice Bilharinho de, Camper, Sally Ann, Carvalho, Luciani R.

المصدر: Genes; Aug2021, Vol. 12 Issue 8, p1128, 1p

مصطلحات موضوعية: PHENOTYPES, HYPOPITUITARISM, GENETIC variation, MISSENSE mutation, HOMEOBOX proteins, PITUITARY dwarfism, PROTEIN stability

المؤلفون: Camper, Sally Ann

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::219db0b80b549fe647eb79ecca54191f

المؤلفون: Toolan, Kevin Patrick

المساهمون: Bielas, Stephanie, Camper, Sally Ann, Seasholtz, Audrey F, Iwase, Shigeki, Kitzman, Jacob, Ann Arbor

مصطلحات موضوعية: autism, histone methyltransferase, cortical development, mouse model, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/193229; https://dx.doi.org/10.7302/22874; orcid:0000-0001-7289-569X; Toolan, Kevin; 0000-0001-7289-569X

الاتاحة: https://hdl.handle.net/2027.42/193229
https://doi.org/10.7302/22874

المؤلفون: Hill, Sophie

المساهمون: Camper, Sally Ann, Meisler, Miriam H, Giger, Roman, Isom, Lori L, Kwan, Kenneth

مصطلحات موضوعية: Scn8a, ASO, Epilepsy, Sodium channel, Therapy, Neurosciences, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/178166; https://dx.doi.org/10.7302/8623; orcid:0000-0002-8331-9812; Hill, Sophie; 0000-0002-8331-9812

الاتاحة: https://hdl.handle.net/2027.42/178166
https://doi.org/10.7302/8623

المؤلفون: Cisneros Larios, Brenda

المساهمون: Elias, Carol, Ferrario, Carrie R, Camper, Sally Ann, Moenter, Sue

مصطلحات موضوعية: prokineticin receptor 2 and reproduction, posterior amygdala and motivated behaviors, reproductive axis, prokineticins and reproduction, Physiology, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/177771; https://dx.doi.org/10.7302/8228; orcid:0009-0003-6344-7360; Cisneros Larios, Brenda; 0009-0003-6344-7360

الاتاحة: https://hdl.handle.net/2027.42/177771
https://doi.org/10.7302/8228

المؤلفون: Smith, Cathy

المساهمون: Kitzman, Jacob, Jiang, Hui, Camper, Sally Ann, Kidd, Jeffrey, Sartor, Maureen, Walter, Nils G

مصطلحات موضوعية: Splicing, Massively parallel splicing assays, Computational prediction, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/177980; https://dx.doi.org/10.7302/8437; orcid:0000-0003-1518-9320; Smith, Cathy; 0000-0003-1518-9320

الاتاحة: https://hdl.handle.net/2027.42/177980
https://doi.org/10.7302/8437

المؤلفون: Zheng, Xianing

المساهمون: Hammoud, Saher Sue, Li, Jun, Chen, Yang, Camper, Sally Ann, Kidd, Jeffrey

مصطلحات موضوعية: single-cell RNA-seq, transcriptomics, spermatogenesis, Genetics, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/172630; https://dx.doi.org/10.7302/4659; orcid:0000-0002-3302-1241; Zheng, Xianing; 0000-0002-3302-1241

الاتاحة: https://hdl.handle.net/2027.42/172630
https://doi.org/10.7302/4659

المؤلفون: McDonald, Torrin

المساهمون: Boyle, Alan P, Freddolino, Peter Louis, Camper, Sally Ann, Hammoud, Saher Sue, Wittkopp, Trisha

مصطلحات موضوعية: Technology Development and Genetics, Genetics, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/171396; https://dx.doi.org/10.7302/3908; orcid:0000-0001-5670-9375; McDonald, Torrin; 0000-0001-5670-9375

الاتاحة: https://hdl.handle.net/2027.42/171396
https://doi.org/10.7302/3908

المؤلفون: Daly, Alexandre

المساهمون: Camper, Sally Ann, Engel, James Douglas, Kalantry, Sundeep, Kitzman, Jacob, Parker, Stephen CJ

مصطلحات موضوعية: Pituitary, Epigenomics, Development, Transgenic Mice, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/162910; orcid:0000-0002-1924-0755; Daly, Alexandre; 0000-0002-1924-0755

الاتاحة: https://hdl.handle.net/2027.42/162910

المؤلفون: Kruger, Alyssa

المساهمون: Mueller, Jacob L, Wittkopp, Trisha, Camper, Sally Ann, Hammoud, Saher Sue, Moran, John V

مصطلحات موضوعية: X-palindromes, Male fertility, Male infertility, Meiotic drive, Selfish genetic elements, Genetics, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/163084; orcid:0000-0001-6682-0990; Kruger, Alyssa; 0000-0001-6682-0990

الاتاحة: https://hdl.handle.net/2027.42/163084

المؤلفون: Varshney, Arushi

المساهمون: Parker, Stephen CJ, Ljungman, Mats E D, Camper, Sally Ann, Kitzman, Jacob, Willer, Cristen J

مصطلحات موضوعية: Analyses of large multi-omics datasets help describe genetics of type 2 diabetes, type 2 diabetes, epigenome, transcriptome, eQTL, genome, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/151691; orcid:0000-0001-9177-9707; Varshney, Arushi; 0000-0001-9177-9707

الاتاحة: https://hdl.handle.net/2027.42/151691

المؤلفون: Vallianatos, Christina

المساهمون: Iwase, Shigeki, Dou, Yali, Camper, Sally Ann, Kwan, Kenneth, Parker, Stephen CJ

مصطلحات موضوعية: genetics, chromatin, neurodevelopmental disorders, epigenetics, autism, intellectual disability, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/150006; orcid:0000-0003-3159-3200; Vallianatos, Christina; 0000-0003-3159-3200

الاتاحة: https://hdl.handle.net/2027.42/150006

المؤلفون: Berg, Tova

المساهمون: Moenter, Sue, Camper, Sally Ann, Elias, Carol, Low, Malcolm J

مصطلحات موضوعية: Development of GABA Inputs to Gonadotropin-Releasing Hormone (GnRH) Neurons and Effects of Prenatal Androgen Exposure, Physiology, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/155122; orcid:0000-0002-3150-1049; Berg, Tova; 0000-0002-3150-1049

الاتاحة: https://hdl.handle.net/2027.42/155122

المؤلفون: Maclary, Emily T.

المساهمون: Kalantry, Sundeep, Wittkopp, Trisha, Camper, Sally Ann, Meisler, Miriam H, Burke, David T

مصطلحات موضوعية: Epigenetics, X-chromosome Inactivation, long non-coding RNA, stem cells, Genetics, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/133188

الاتاحة: https://hdl.handle.net/2027.42/133188

المؤلفون: Kocak, Hande

المساهمون: Keegan, Catherine Elizabeth H., Nandakumar, Jayakrishnan, Camper, Sally Ann, Glover, Thomas W., Sekiguchi, Joann

مصطلحات موضوعية: Dyskeratosis congenita, ACD, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/110429

الاتاحة: https://hdl.handle.net/2027.42/110429

المؤلفون: Prakash, Ajay

المساهمون: Gumucio, Deborah L., Brown, Pamela I., Camper, Sally Ann, Engel, James Douglas, Teitelbaum, Daniel H.

مصطلحات موضوعية: Gata3, Nkx2-5, pyloric development, Sox9, Molecular, Cellular and Developmental Biology, Health Sciences

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/111521

الاتاحة: https://hdl.handle.net/2027.42/111521

المؤلفون: O'Brien, Janelle Elizabeth

المساهمون: Meisler, Miriam H., Isom, Lori L., Antonellis, Anthony, Camper, Sally Ann, Chan, Raymond C.

مصطلحات موضوعية: Voltage-gated Sodium Channels, Human Genetic Disease, Epilepsy, Alternative Splicing, Protein Trafficking, Genetics, Science

وصف الملف: application/pdf

Relation: https://hdl.handle.net/2027.42/100063

الاتاحة: https://hdl.handle.net/2027.42/100063